Journal of Obstetrics and Gynaecology
ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20
Puerperal ischaemic stroke caused by moyamoya disease: A case report C.-Y. Huang, H. Liang, W.-L. Gao, L.-P. Feng & L.-M. Zhang To cite this article: C.-Y. Huang, H. Liang, W.-L. Gao, L.-P. Feng & L.-M. Zhang (2015) Puerperal ischaemic stroke caused by moyamoya disease: A case report, Journal of Obstetrics and Gynaecology, 35:8, 858-859, DOI: 10.3109/01443615.2015.1018820 To link to this article: http://dx.doi.org/10.3109/01443615.2015.1018820
Published online: 02 Jun 2015.
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Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ijog20 Download by: [University of California, San Diego]
Date: 09 November 2015, At: 06:09
Journal of Obstetrics and Gynaecology 2015.35:858-859.
858 Obstetric Case Reports Connor SJ, Hanna GB, Frizelle FA. 1998. Appendiceal tumors: retrospective clinicopathologic analysis of appendiceal tumors from 7,970 appendectomies. Diseases of Colon and Rectum 41:75–80. González-Moreno S, Sugarbaker PH. 2004. Right hemicolectomy does not confer a survival advantage in patients with mucinous carcinoma of the appendix and peritoneal seeding. The British Journal of Surgery 91:304–311. Ito H, Osteen RT, Bleday R et al. 2004. Appendiceal adenocarcinoma: long-term outcomes after surgical therapy. Diseases of Colon and Rectum 47:474–480. Kyser K, Bidus MA, Rodriguez M et al. 2006. Spontaneous pregnancy following cytoreduction with peritonectomy and hyperthermic intraperitoneal chemotherapy. Gynecologic Oncology 100:198–200. Lieu CH, Lambert LA, Wolff RA et al. 2012. Systemic chemotherapy and surgical cytoreduction for poorly differentiated and signet ring cell adenocarcinomas of the appendix. Annals of Oncology 23:652–658. McCusker ME, Coté TR, Clegg LX et al. 2002. Primary malignant neoplasms of the appendix: a population-based study from the surveillance, epidemiology and end-results program, 1973–1998. Cancer 94:3307–3312. Shapiro JF, Chase JL, Wolff RA et al. 2010. Modern systemic chemotherapy in surgically unresectable neoplasms of appendiceal origin: a single-institution experience. Cancer 116:316. Sugarbaker PH. 2004. Managing the peritoneal surface component of gastrointestinal cancer. Part 2. Perioperative intraperitoneal chemotherapy. Oncology (Williston Park) 18:207–219. Turaga KK, Pappas SG, Gamblin T. 2012. Importance of histologic subtype in the staging of appendiceal tumors. Annals of Surgical Oncology 19: 1379–1385. Turaga KK, Pappas S, Gamblin TC. 2013. Right hemicolectomy for mucinous adenocarcinoma of the appendix: just right or too much?. Annals of Surgical Oncology 20:1063–1067.
Puerperal ischaemic stroke caused by moyamoya disease: A case report C.-Y. Huang1, H. Liang2, W.-L. Gao1, L.-P. Feng1 & L.-M. Zhang1 1Department of Obstetrics and Gynecology, Beijing Tiantan Hospital,
Capital Medical University, Beijing, P. R. China and 2Department of Anesthesiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, P. R. China DOI: 10.3109/01443615.2015.1018820 Correspondence: Dr Wanli Gao, Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, No.6 Tiantanxili, Dongcheng District, Beijing 100050, P. R. China. E-mail: [email protected] or [email protected]
Introduction
Moyamoya disease (MMD) is a rare chronic occlusive cerebrovascular disease, with some non-typical symptoms including ischaemic stroke, transient ischaemic attack (TIA), intracranial haemorrhage, seizures and headaches (Guzman et al. 2009). MMD is easily misdiagnosed due to non-typical symptoms; delayed diagnosis and treatment lead to poor prognosis. The literature regarding the diagnosis and treatment of MMD following an ischaemic attack during the puerperium is rare. Here we report a rare case of a female patient who experienced ischaemic attack during the puerperium and was diagnosed with MMD.
more than 1 day. After admission, she was indifferent, anaemic and uncooperative, but her vital signs were normal. Tests of her bilateral papilledema and Puusepp’s sign were positive. Magnetic resonance angiography (MRA, Figure 1) revealed multiple stenoses and occlusions in the bilateral internal carotid artery and the anterior and middle cerebral arteries. In addition, the posterior cerebral artery was slim, indicating MMD. Her haemoglobin level was 69 g/L, and her haematocrit was 22.8%. Anti-platelet medication with aspirin, antibiotics to prevent infection, and blood transfusion were applied. She was transfused with 6 U of packed red blood cells discontinuously. Thereafter, her indifferent emotional state and incontinence improved markedly. Her neurological status was gradually recovered to normal by day 6 after the onset of symptoms. After aspirin treatment for 7 days, her haemoglobin level was 99 g/L and her haematocrit returned to 32.7% gradually. The patient was then discharged. To effectively prevent ischaemic stroke, reconstructive surgery is considered for the patient.
Discussion
MMD is characterised by the stenosis or occlusion of the terminal portion of the internal carotid arteries, along with abnormal capillary networks, known as ‘moyamoya vessels’. The aetiology of MMD is unclear, but the associated factors include genetic background, viral infection, autoimmune inflammatory response, etc. Pregnancy and puerperium are not risk factors for intracranial haemorrhage in haemorrhagic MMD (Liu et al. 2014). However, the pathophysiology of MMD and pregnancy poses specific concerns including a pregnancy-associated increased risk of thrombosis, increased cerebral perfusion pressure, labour-related stress and hypertensive diseases (Komiyama 1998). Ischaemic symptoms of MMD include TIA and stroke. Most patients suffer with hemiplegia, hemiparesthesia, aphasia and cognitive impairment, whereas some patients have atypical symptoms such as epilepsy, syncope, visual impairment and personality changes (Scott and Smith 2009). In our case, the patient mainly suffered with emotional indifference and incontinence. Some physiological alterations including hypercoagulability and venous stasis may be associated with ischaemic stroke during pregnancy and the puerperium (Del Zotto et al. 2011). Furthermore, gestational diabetes, caesarean section and postpartum haemorrhage were risk factors for ischaemic stroke in our MMD patient. Diabetes is considered a risk factor for ischaemic stroke in young Asian women (Wasay et al. 2010). A strong association between caesarean section and ischaemic stroke during pregnancy and the postpartum recovery period has been reported (Tang et al. 2009). Postpartum haemorrhage may lead to anaemia and hypovolemia. The haematocrit of the reported patient decreased to 22.8% due to postpartum haemorrhage. Although the optimal haematocrit for MMD patients remains unknown, a haematocrit less than 30% can increase the risk of cerebral ischaemia in MMD patients (Parray et al. 2011). Hypovolemia is often associated with low blood pressure, which is an important risk factor for ischaemic stroke caused by MMD. Thus, we suggest that hypovolemia should be treated immediately to avoid fluctuation in blood pressure during the postpartum recovery period.
Case report
A 26-year-old Chinese woman was at 39 weeks’ gestation with foetal macrosomia and gestational diabetes. Oral consent for this report was obtained from the patient. The patient underwent elective caesarean section under epidural anaesthesia on the second day after admission. She delivered a healthy baby girl weighing 4,135 g. During the first 24 h, postpartum blood loss reached 850 ml due to uterine atony. The patient experienced moderate anaemia and had a haemoglobin value of 73 g/L. She was transfused with 2 U of packed red blood cells. By day 3 postpartum, she had recovered well, and her haemoglobin value had returned to 82 g/L. Then she was discharged. Five days after caesarean section, the patient appeared with symptoms of emotional indifference and incontinence persisting for
Figure 1. Multiple stenoses and occlusions were observed in the bilateral anterior and middle cerebral arteries (indicated by arrows).
Obstetric Case Reports 859 The aetiology of MMD is unknown. The goal of treatment is to increase blood flow in the brain (King et al. 2010). Surgical reconstruction of brain vessels is the most effective way to improve haemodynamic status and blood flow in the ischaemic cortex, and to reduce the probability of secondary stroke (Mesiwala et al. 2008). Drug therapy mainly includes the use of drugs that prevent platelet aggregation and thrombosis. Our patient received antiplatelet therapy with aspirin and blood transfusion to increase the haematocrit. However, even after drug intervention, 65% of adult MMD patients with unilateral abnormal vascular networks still suffer from acute cerebral vascular events within 5 years, and this frequency increases to 82% in adult MMD patients with bilateral lesions and ischaemic symptoms (Hallemeier et al. 2006). To effectively prevent ischaemic stroke, reconstructive surgery may be considered for the patient. Declaration of interest: The authors report no declarations of interest. The authors are responsible for the content and writing of the paper.
Journal of Obstetrics and Gynaecology 2015.35:858-859.
References
Del Zotto E, Giossi A, Volonghi I et al. 2011. Ischemic stroke during pregnancy and puerperium. Stroke Research and Treatment 2011:606780. Guzman R, Lee M, Achrol A et al. 2009. Clinical outcome after 450 revascularization procedures for moyamoya disease. Journal of Neurosurgery 111: 927–935. Hallemeier CL, Rich KM, Grubb RL Jr et al. 2006. Clinical features and outcome in North American adults with moyamoya phenomenon. Stroke 37:1490–1496. King JA, Armstrong D, Vachhrajani S et al. 2010. Relative contributions of the middle meningeal artery and superficial temporal artery in revascularization surgery for moyamoya syndrome in children: the results of superselective angiography. Jounal of Neurosurgery Pediatrics 5:184–189. Komiyama M. 1998. Moyamoya disease and pregnancy: Case report and review of the literature. Neurosurgery 43:360–368. Liu XJ, Zhang D, Wang S et al. 2014. Intracranial hemorrhage from moyamoya disease during pregnancy and puerperium. International Journal of Gyneco logy and Obstetrics 125:150–153. Mesiwala AH, Sviri G, Fatemi N et al. 2008. Long-term outcome of superficial temporal artery-middle cerebral artery bypass for patients with MMD in the US. Neurosurgical Focus 24:E15. Parray T, Martin TW, Siddiqui S. 2011. Moyamoya disease: A review of the disease and anesthetic management. Journal of Neurosurgical Anesthesiology 23:100–109. Scott RM, Smith ER. 2009. Moyamoya disease and moyamoya syndrome. New England Journal of Medicine 360:1226–1237. Tang CH, Wu CS, Lee TH et al. 2009. Preeclampsia-eclampsia and the risk of stroke among peripartum in Taiwan. Stroke 40:1162–1168. Wasay M, Kaul S, Menon B et al. 2010. Ischemic stroke in young Asian women: risk factors, subtypes and outcome. Cerebrovascular Disease 30:418–422.
Chromosomal sex determines gonadal sex, but it is not enough for male phenotype: Novel mutation in androgen receptor gene
sex-specific phenotype and ultimate differentiation of external genital organs as female or male is a stepwise process that is dependent on both sequence and timing starting with hormonal milieu initiated by the presence or absence of the testis-determining factor on the Y chromosome, in the sex-determining region Y or SRY gene region. Complete androgen insensitivity syndrome (CAIS), which was previously described as testicular feminisation, is a rare X-linked recessive hereditary sex development disorder and encountered in 1/20000–1/64000 male live births (Raicu et al. 2008). When the androgen receptor (AR) gene which is located on the long arm of the X chromosome (Xq11–q12) is subject to a mutation, androgen receptor function loss takes place that results in AIS (Brown et al. 1989). AR defects may be total or incomplete (Quigley et al. 1995). Testicles can be located in abdominal cavity, inguinal canals and labium majus. Since these patients are under the risk of 33% malign transformation to gonadoblastoma or dysgerminoma, gonadectomy is important for prophylaxis, but this operation is recommended after the pubertal period, because the risk of cancer is extremely low under 20 years of age (Cools et al. 2006). In this study we have screened the presence of small deletion/insertion and point mutation for AR exons by double-stranded DNA sequencing, which is not able to detect large duplication/deletion or complex rearrangements along the AR gene. In the following section, we describe a case of CAIS.
Case report
Clinical features and laboratory findings A 33-year-old, phenotypically female patient presented with a history of primary amenorrhea and swelling in both inguinal regions. She had been married for 13 years, and had no delivery. The physical examination defined normal female external genitalia, sparse pubic or axillary hair and developed breasts with juvenile (small and pale) nipples, while on the other hand gynaecological examination revealed a short, blind-ending vagina. Ultrasonography and magnetic resonance imaging of the pelvis did not identify uterus, fallopian tube or ovaries but revealed testicle-like gonads located in the inguinal canal bilaterally. The hormonal profiles were as follows: follicle-stimulating hormone, 4.5 IU/L; luteinizing hormone (LH), 21.5 IU/L; oestradiol (E2), 50.1 pg/ml; total testosterone (TT), 5.5 ng/ml; free testosterone (FT), 9.5 pg/ml and dehydroepiandrosterone sulphate, 380 ug/dl. LH level was above the upper normal limit. TT and FT levels were elevated compared with the normal female level and were in the normal range for males. E2 was in the normal range for females. Cytogenetic analysis from the peripheral blood lymphocytes revealed a diploid set of chromosomes, including 22 pairs of homologous autosomes and one pair of sex chromosomes, compatible with a 46XY male chromosome complement. Furthermore, in a DNA sample isolated from peripheral blood, 25 gene loci belonging to Y chromosome AZFa, AZFb and AZFc gene zones were analysed with polymerase chain reaction (PCR) technique and no microdeletions were detected.
H. Alptekin1, S. Barış2 & M. Yıldız3 1Department of Obstetrics and Gynecology, University of Mevlana,
Konya, Turkey, 2Department of Medical Genetics, University of Mevlana, Konya, Turkey, and 3Department of Radiology, University of Mevlana, Konya, Turkey DOI: 10.3109/01443615.2015.1019434 Correspondence: H. Alptekin, Department of Obstetrics and Gynecology, Mevlana University Hospital, Konya, Turkey. E-mail: [email protected]
Introduction
Traditional teaching says that chromosomal sex predetermines gonadal sex, which determines phenotypic sex. The development of
Figure 1. Intraoperative appearance of the gonads.
ISSN: 0144-3615 (Print) 1364-6893 (Online) Journal homepage: http://www.tandfonline.com/loi/ijog20
Puerperal ischaemic stroke caused by moyamoya disease: A case report C.-Y. Huang, H. Liang, W.-L. Gao, L.-P. Feng & L.-M. Zhang To cite this article: C.-Y. Huang, H. Liang, W.-L. Gao, L.-P. Feng & L.-M. Zhang (2015) Puerperal ischaemic stroke caused by moyamoya disease: A case report, Journal of Obstetrics and Gynaecology, 35:8, 858-859, DOI: 10.3109/01443615.2015.1018820 To link to this article: http://dx.doi.org/10.3109/01443615.2015.1018820
Published online: 02 Jun 2015.
Submit your article to this journal
Article views: 6
View related articles
View Crossmark data
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ijog20 Download by: [University of California, San Diego]
Date: 09 November 2015, At: 06:09
Journal of Obstetrics and Gynaecology 2015.35:858-859.
858 Obstetric Case Reports Connor SJ, Hanna GB, Frizelle FA. 1998. Appendiceal tumors: retrospective clinicopathologic analysis of appendiceal tumors from 7,970 appendectomies. Diseases of Colon and Rectum 41:75–80. González-Moreno S, Sugarbaker PH. 2004. Right hemicolectomy does not confer a survival advantage in patients with mucinous carcinoma of the appendix and peritoneal seeding. The British Journal of Surgery 91:304–311. Ito H, Osteen RT, Bleday R et al. 2004. Appendiceal adenocarcinoma: long-term outcomes after surgical therapy. Diseases of Colon and Rectum 47:474–480. Kyser K, Bidus MA, Rodriguez M et al. 2006. Spontaneous pregnancy following cytoreduction with peritonectomy and hyperthermic intraperitoneal chemotherapy. Gynecologic Oncology 100:198–200. Lieu CH, Lambert LA, Wolff RA et al. 2012. Systemic chemotherapy and surgical cytoreduction for poorly differentiated and signet ring cell adenocarcinomas of the appendix. Annals of Oncology 23:652–658. McCusker ME, Coté TR, Clegg LX et al. 2002. Primary malignant neoplasms of the appendix: a population-based study from the surveillance, epidemiology and end-results program, 1973–1998. Cancer 94:3307–3312. Shapiro JF, Chase JL, Wolff RA et al. 2010. Modern systemic chemotherapy in surgically unresectable neoplasms of appendiceal origin: a single-institution experience. Cancer 116:316. Sugarbaker PH. 2004. Managing the peritoneal surface component of gastrointestinal cancer. Part 2. Perioperative intraperitoneal chemotherapy. Oncology (Williston Park) 18:207–219. Turaga KK, Pappas SG, Gamblin T. 2012. Importance of histologic subtype in the staging of appendiceal tumors. Annals of Surgical Oncology 19: 1379–1385. Turaga KK, Pappas S, Gamblin TC. 2013. Right hemicolectomy for mucinous adenocarcinoma of the appendix: just right or too much?. Annals of Surgical Oncology 20:1063–1067.
Puerperal ischaemic stroke caused by moyamoya disease: A case report C.-Y. Huang1, H. Liang2, W.-L. Gao1, L.-P. Feng1 & L.-M. Zhang1 1Department of Obstetrics and Gynecology, Beijing Tiantan Hospital,
Capital Medical University, Beijing, P. R. China and 2Department of Anesthesiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, P. R. China DOI: 10.3109/01443615.2015.1018820 Correspondence: Dr Wanli Gao, Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, No.6 Tiantanxili, Dongcheng District, Beijing 100050, P. R. China. E-mail: [email protected] or [email protected]
Introduction
Moyamoya disease (MMD) is a rare chronic occlusive cerebrovascular disease, with some non-typical symptoms including ischaemic stroke, transient ischaemic attack (TIA), intracranial haemorrhage, seizures and headaches (Guzman et al. 2009). MMD is easily misdiagnosed due to non-typical symptoms; delayed diagnosis and treatment lead to poor prognosis. The literature regarding the diagnosis and treatment of MMD following an ischaemic attack during the puerperium is rare. Here we report a rare case of a female patient who experienced ischaemic attack during the puerperium and was diagnosed with MMD.
more than 1 day. After admission, she was indifferent, anaemic and uncooperative, but her vital signs were normal. Tests of her bilateral papilledema and Puusepp’s sign were positive. Magnetic resonance angiography (MRA, Figure 1) revealed multiple stenoses and occlusions in the bilateral internal carotid artery and the anterior and middle cerebral arteries. In addition, the posterior cerebral artery was slim, indicating MMD. Her haemoglobin level was 69 g/L, and her haematocrit was 22.8%. Anti-platelet medication with aspirin, antibiotics to prevent infection, and blood transfusion were applied. She was transfused with 6 U of packed red blood cells discontinuously. Thereafter, her indifferent emotional state and incontinence improved markedly. Her neurological status was gradually recovered to normal by day 6 after the onset of symptoms. After aspirin treatment for 7 days, her haemoglobin level was 99 g/L and her haematocrit returned to 32.7% gradually. The patient was then discharged. To effectively prevent ischaemic stroke, reconstructive surgery is considered for the patient.
Discussion
MMD is characterised by the stenosis or occlusion of the terminal portion of the internal carotid arteries, along with abnormal capillary networks, known as ‘moyamoya vessels’. The aetiology of MMD is unclear, but the associated factors include genetic background, viral infection, autoimmune inflammatory response, etc. Pregnancy and puerperium are not risk factors for intracranial haemorrhage in haemorrhagic MMD (Liu et al. 2014). However, the pathophysiology of MMD and pregnancy poses specific concerns including a pregnancy-associated increased risk of thrombosis, increased cerebral perfusion pressure, labour-related stress and hypertensive diseases (Komiyama 1998). Ischaemic symptoms of MMD include TIA and stroke. Most patients suffer with hemiplegia, hemiparesthesia, aphasia and cognitive impairment, whereas some patients have atypical symptoms such as epilepsy, syncope, visual impairment and personality changes (Scott and Smith 2009). In our case, the patient mainly suffered with emotional indifference and incontinence. Some physiological alterations including hypercoagulability and venous stasis may be associated with ischaemic stroke during pregnancy and the puerperium (Del Zotto et al. 2011). Furthermore, gestational diabetes, caesarean section and postpartum haemorrhage were risk factors for ischaemic stroke in our MMD patient. Diabetes is considered a risk factor for ischaemic stroke in young Asian women (Wasay et al. 2010). A strong association between caesarean section and ischaemic stroke during pregnancy and the postpartum recovery period has been reported (Tang et al. 2009). Postpartum haemorrhage may lead to anaemia and hypovolemia. The haematocrit of the reported patient decreased to 22.8% due to postpartum haemorrhage. Although the optimal haematocrit for MMD patients remains unknown, a haematocrit less than 30% can increase the risk of cerebral ischaemia in MMD patients (Parray et al. 2011). Hypovolemia is often associated with low blood pressure, which is an important risk factor for ischaemic stroke caused by MMD. Thus, we suggest that hypovolemia should be treated immediately to avoid fluctuation in blood pressure during the postpartum recovery period.
Case report
A 26-year-old Chinese woman was at 39 weeks’ gestation with foetal macrosomia and gestational diabetes. Oral consent for this report was obtained from the patient. The patient underwent elective caesarean section under epidural anaesthesia on the second day after admission. She delivered a healthy baby girl weighing 4,135 g. During the first 24 h, postpartum blood loss reached 850 ml due to uterine atony. The patient experienced moderate anaemia and had a haemoglobin value of 73 g/L. She was transfused with 2 U of packed red blood cells. By day 3 postpartum, she had recovered well, and her haemoglobin value had returned to 82 g/L. Then she was discharged. Five days after caesarean section, the patient appeared with symptoms of emotional indifference and incontinence persisting for
Figure 1. Multiple stenoses and occlusions were observed in the bilateral anterior and middle cerebral arteries (indicated by arrows).
Obstetric Case Reports 859 The aetiology of MMD is unknown. The goal of treatment is to increase blood flow in the brain (King et al. 2010). Surgical reconstruction of brain vessels is the most effective way to improve haemodynamic status and blood flow in the ischaemic cortex, and to reduce the probability of secondary stroke (Mesiwala et al. 2008). Drug therapy mainly includes the use of drugs that prevent platelet aggregation and thrombosis. Our patient received antiplatelet therapy with aspirin and blood transfusion to increase the haematocrit. However, even after drug intervention, 65% of adult MMD patients with unilateral abnormal vascular networks still suffer from acute cerebral vascular events within 5 years, and this frequency increases to 82% in adult MMD patients with bilateral lesions and ischaemic symptoms (Hallemeier et al. 2006). To effectively prevent ischaemic stroke, reconstructive surgery may be considered for the patient. Declaration of interest: The authors report no declarations of interest. The authors are responsible for the content and writing of the paper.
Journal of Obstetrics and Gynaecology 2015.35:858-859.
References
Del Zotto E, Giossi A, Volonghi I et al. 2011. Ischemic stroke during pregnancy and puerperium. Stroke Research and Treatment 2011:606780. Guzman R, Lee M, Achrol A et al. 2009. Clinical outcome after 450 revascularization procedures for moyamoya disease. Journal of Neurosurgery 111: 927–935. Hallemeier CL, Rich KM, Grubb RL Jr et al. 2006. Clinical features and outcome in North American adults with moyamoya phenomenon. Stroke 37:1490–1496. King JA, Armstrong D, Vachhrajani S et al. 2010. Relative contributions of the middle meningeal artery and superficial temporal artery in revascularization surgery for moyamoya syndrome in children: the results of superselective angiography. Jounal of Neurosurgery Pediatrics 5:184–189. Komiyama M. 1998. Moyamoya disease and pregnancy: Case report and review of the literature. Neurosurgery 43:360–368. Liu XJ, Zhang D, Wang S et al. 2014. Intracranial hemorrhage from moyamoya disease during pregnancy and puerperium. International Journal of Gyneco logy and Obstetrics 125:150–153. Mesiwala AH, Sviri G, Fatemi N et al. 2008. Long-term outcome of superficial temporal artery-middle cerebral artery bypass for patients with MMD in the US. Neurosurgical Focus 24:E15. Parray T, Martin TW, Siddiqui S. 2011. Moyamoya disease: A review of the disease and anesthetic management. Journal of Neurosurgical Anesthesiology 23:100–109. Scott RM, Smith ER. 2009. Moyamoya disease and moyamoya syndrome. New England Journal of Medicine 360:1226–1237. Tang CH, Wu CS, Lee TH et al. 2009. Preeclampsia-eclampsia and the risk of stroke among peripartum in Taiwan. Stroke 40:1162–1168. Wasay M, Kaul S, Menon B et al. 2010. Ischemic stroke in young Asian women: risk factors, subtypes and outcome. Cerebrovascular Disease 30:418–422.
Chromosomal sex determines gonadal sex, but it is not enough for male phenotype: Novel mutation in androgen receptor gene
sex-specific phenotype and ultimate differentiation of external genital organs as female or male is a stepwise process that is dependent on both sequence and timing starting with hormonal milieu initiated by the presence or absence of the testis-determining factor on the Y chromosome, in the sex-determining region Y or SRY gene region. Complete androgen insensitivity syndrome (CAIS), which was previously described as testicular feminisation, is a rare X-linked recessive hereditary sex development disorder and encountered in 1/20000–1/64000 male live births (Raicu et al. 2008). When the androgen receptor (AR) gene which is located on the long arm of the X chromosome (Xq11–q12) is subject to a mutation, androgen receptor function loss takes place that results in AIS (Brown et al. 1989). AR defects may be total or incomplete (Quigley et al. 1995). Testicles can be located in abdominal cavity, inguinal canals and labium majus. Since these patients are under the risk of 33% malign transformation to gonadoblastoma or dysgerminoma, gonadectomy is important for prophylaxis, but this operation is recommended after the pubertal period, because the risk of cancer is extremely low under 20 years of age (Cools et al. 2006). In this study we have screened the presence of small deletion/insertion and point mutation for AR exons by double-stranded DNA sequencing, which is not able to detect large duplication/deletion or complex rearrangements along the AR gene. In the following section, we describe a case of CAIS.
Case report
Clinical features and laboratory findings A 33-year-old, phenotypically female patient presented with a history of primary amenorrhea and swelling in both inguinal regions. She had been married for 13 years, and had no delivery. The physical examination defined normal female external genitalia, sparse pubic or axillary hair and developed breasts with juvenile (small and pale) nipples, while on the other hand gynaecological examination revealed a short, blind-ending vagina. Ultrasonography and magnetic resonance imaging of the pelvis did not identify uterus, fallopian tube or ovaries but revealed testicle-like gonads located in the inguinal canal bilaterally. The hormonal profiles were as follows: follicle-stimulating hormone, 4.5 IU/L; luteinizing hormone (LH), 21.5 IU/L; oestradiol (E2), 50.1 pg/ml; total testosterone (TT), 5.5 ng/ml; free testosterone (FT), 9.5 pg/ml and dehydroepiandrosterone sulphate, 380 ug/dl. LH level was above the upper normal limit. TT and FT levels were elevated compared with the normal female level and were in the normal range for males. E2 was in the normal range for females. Cytogenetic analysis from the peripheral blood lymphocytes revealed a diploid set of chromosomes, including 22 pairs of homologous autosomes and one pair of sex chromosomes, compatible with a 46XY male chromosome complement. Furthermore, in a DNA sample isolated from peripheral blood, 25 gene loci belonging to Y chromosome AZFa, AZFb and AZFc gene zones were analysed with polymerase chain reaction (PCR) technique and no microdeletions were detected.
H. Alptekin1, S. Barış2 & M. Yıldız3 1Department of Obstetrics and Gynecology, University of Mevlana,
Konya, Turkey, 2Department of Medical Genetics, University of Mevlana, Konya, Turkey, and 3Department of Radiology, University of Mevlana, Konya, Turkey DOI: 10.3109/01443615.2015.1019434 Correspondence: H. Alptekin, Department of Obstetrics and Gynecology, Mevlana University Hospital, Konya, Turkey. E-mail: [email protected]
Introduction
Traditional teaching says that chromosomal sex predetermines gonadal sex, which determines phenotypic sex. The development of
Figure 1. Intraoperative appearance of the gonads.
